Assay Details
Target Gene Details
Entrez Gene ID: | 57513 |
Gene Name: | CASK interacting protein 2 |
Gene Aliases: |
ANKS5B |
Location: |
Chr.17:75500260-75515583 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 19 - Exon 19 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CASKIN2 | NM_001142643.2 | NP_001136115.1 | ||
NM_020753.4 | NP_065804.2 | |||
AB032965.1 | ||||
AF451976.1 | AAL49757.1 | |||
AK025262.1 | ||||
AK300354.1 | ||||
AK315936.1 | ||||
BC066643.1 | AAH66643.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv470603 | Chr.17:75468213 - 75741366 on Build GRCh38 | Loss | CASKIN2 MYO15B RECQL5 MIR6785 SMIM6 SAP30BP TMEM94 LLGL2 SMIM5 TSEN54 ITGB4 |
nsv516133 | Chr.17:75420733 - 75763223 on Build GRCh38 | Loss | CASKIN2 MYO15B RECQL5 GALK1 MIR6785 SMIM6 SAP30BP TMEM94 LLGL2 SMIM5 TSEN54 ITGB4 |
nsv952368 | Chr.17:75487920 - 75522019 on Build GRCh38 | Deletion | CASKIN2 MIR6785 TMEM94 TSEN54 |
nsv576027 | Chr.17:75249939 - 75750289 on Build GRCh38 | Gain | CASKIN2 MIR6785 TMEM94 SLC25A19 MIR3678 SMIM5 MIF4GD TSEN54 ITGB4 GGA3 MRPS7 LOC100287042 MYO15B RECQL5 SMIM6 SAP30BP LLGL2 GRB2 |
nsv833542 | Chr.17:75441043 - 75544993 on Build GRCh38 | Loss | CASKIN2 MIR6785 TMEM94 LLGL2 TSEN54 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |